SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918366
rs121918366 		0.827 0.160 12 50992291 missense variant G/A;C snv
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		Hemic and Lymphatic Diseases 0.710 1.000 1 2006 2006
dbSNP: rs121918365
rs121918365 		0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.700 1.000 3 2005 2006
dbSNP: rs121918366
rs121918366 		0.827 0.160 12 50992291 missense variant G/A;C snv
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.700 1.000 3 2005 2006
dbSNP: rs121918367
rs121918367 		0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05
CUI: C3806153
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 		0.700 1.000 3 2005 2006
dbSNP: rs121918367
rs121918367 		0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05
CUI: C2673913
Disease: Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypochromic Microcytic, With Iron Overload 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs760028045
rs760028045 		1.000 0.080 12 51008517 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1048230
rs1048230 		0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs1048230
rs1048230 		0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1048230
rs1048230 		0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1048230
rs1048230 		0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2011 2011
dbSNP: rs1048230
rs1048230 		0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1198082657
rs1198082657 		0.925 0.040 12 50992197 missense variant C/T snv 7.0E-06
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1198082657
rs1198082657 		0.925 0.040 12 50992197 missense variant C/T snv 7.0E-06
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918365
rs121918365 		0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121918365
rs121918365 		0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366 		0.827 0.160 12 50992291 missense variant G/A;C snv
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366 		0.827 0.160 12 50992291 missense variant G/A;C snv
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366 		0.827 0.160 12 50992291 missense variant G/A;C snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121918367
rs121918367 		0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918367
rs121918367 		0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918367
rs121918367 		0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs138686455
rs138686455 		0.851 0.120 12 51005330 missense variant C/G snv 3.6E-05 4.9E-05
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs138686455
rs138686455 		0.851 0.120 12 51005330 missense variant C/G snv 3.6E-05 4.9E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs138686455
rs138686455 		0.851 0.120 12 51005330 missense variant C/G snv 3.6E-05 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs138686455
rs138686455 		0.851 0.120 12 51005330 missense variant C/G snv 3.6E-05 4.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013